| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.191 | POLR1C | Bryony Thompson Marked gene: POLR1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.191 | POLR1C | Bryony Thompson Gene: polr1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.191 | POLR1C | Bryony Thompson Classified gene: POLR1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.191 | POLR1C | Bryony Thompson Gene: polr1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.190 | POLR1C |
Bryony Thompson gene: POLR1C was added gene: POLR1C was added to Ataxia. Sources: Literature Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1C were set to 40176224; 38550343; 37197783; 35685919; 34484918; 33804237; 33134519; 33005949; 32319256; 32042905; 31368241 Phenotypes for gene: POLR1C were set to hypomyelinating leukodystrophy 11, MONDO:0014666 Review for gene: POLR1C was set to GREEN Added comment: Multiple studies have identified biallelic loss‑of‑function variants in POLR1C that cause hypomyelinating leukodystrophy (4H) with early‑onset cerebellar ataxia. Sources: Literature |
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